Variant Details

Variant: nsv818829

Internal ID

16060984

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr11:55603545..55674892	hg38	UCSC Ensembl
Inner	chr11:55371021..55442368	hg19	UCSC Ensembl
Inner	chr11:55127597..55198944	hg18	UCSC Ensembl
Inner	chr11:55127597..55198944	hg17	UCSC Ensembl

Cytoband

11q11

Allele length

Assembly	Allele length
hg38	71348
hg19	71348
hg18	71348
hg17	71348

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

dgv11n64

Supporting Variants

nssv1418059, nssv1415685, nssv1415855, nssv1416382, nssv1418094, nssv1416895, nssv1415779, nssv1416917, nssv1416384, nssv1416963, nssv1417058, nssv1415778, nssv1416182, nssv1418018, nssv1415683, nssv1417165, nssv1415777, nssv1416180, nssv1417059, nssv1416017, nssv1418016, nssv1416028, nssv1415856, nssv1417633, nssv1418070, nssv1415854, nssv1415682, nssv1417496

Samples

NA18855, NA12248, NA12865, NA10857, NA07357, NA10835, NA12891, NA18547, NA11992, NA19137, NA11993, NA12878, NA19142, NA12249, NA18857, NA06985, NA12043, NA06991, NA11881, NA19140, NA12874, NA07348, NA06994, NA18987, NA10860, NA12875, NA07000, NA18965

Known Genes

OR4C11, OR4C6, OR4P4, OR4S2

Method

SNP array

Analysis

An integrated HMM algorithm was developed and we constructed accurate models for log R Ratio and B Allele Frequency. We developed more realistic models for state transition between different copy number states. PennCNV incorporates the population allele frequency for each SNP and the distance between adjacent SNPs. We incorporated a Bayesian approach into PennCNV to use family information for a posteriori CNV validation and CNV boundary mapping.

Platform

GPL6433

Comments

Reference

Wang_et_al_2007

Pubmed ID

17921354

Accession Number(s)

nsv818829

Frequency

Sample Size	112
Observed Gain	8
Observed Loss	20
Observed Complex	0
Frequency	n/a